rs776280797
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We identified 2 novel ATP7B mutations (p.Leu692Pro and p.Asn728Ser) and 3 known mutations (p.Met769fs, p.Arg778Leu and p.Val1216Met) in these Chinese WD families.
|
26253413 |
2015 |
rs776280797
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
|
21219664 |
2011 |
rs776280797
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.
|
17876883 |
2007 |
rs776280797
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
|
21645214 |
2011 |
rs776280797
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
|
20931554 |
2010 |
rs776280797
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.
|
18034201 |
2008 |
rs776280797
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs776280797
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.
|
22692182 |
2012 |
rs776280797
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.
|
15952988 |
2005 |
rs776280797
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
|
17587212 |
2007 |
rs776280797
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |
rs776280797
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
|
9671269 |
1998 |
rs776280797
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.
|
14966923 |
2004 |
rs776280797
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
rs776280797
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
rs776280797
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
|
10502776 |
1999 |
rs776280797
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
rs776280797
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
rs776280797
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs776280797
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
|
8533760 |
1995 |
rs776280797
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
rs776280797
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
rs776280797
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
|
17919502 |
2007 |
rs776280797
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
rs776280797
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
|
25982861 |
2015 |